Canonical Allele Identifier: CA10605687
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 287159
ClinVar RCV Id: RCV000343368
dbSNP Id: rs886043584

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22033072del , CM000685.2:g.22033072del GRCh38
NC_000023.10:g.22051190del , CM000685.1:g.22051190del GRCh37
NC_000023.9:g.21961111del NCBI36
NG_007563.2:g.5270del

Transcript Alleles

HGVS Amino-acid change
ENST00000379374.5:c.67del MANE Select ENSP00000368682.4:p.Leu23TrpfsTer9
ENST00000379374.4:c.67del ENSP00000368682.4:p.Leu23TrpfsTer9
NM_000444.5:c.67del NP_000435.3:p.Leu23TrpfsTer9
NM_001282754.1:c.67del NP_001269683.1:p.Leu23TrpfsTer9
XM_011545535.1:c.67del XP_011543837.1:p.Leu23TrpfsTer9
XR_001755695.1:n.746del
NM_000444.6:c.67del MANE Select NP_000435.3:p.Leu23TrpfsTer9
NM_001282754.2:c.67del NP_001269683.1:p.Leu23TrpfsTer9